Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0242379 Malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 4173 1142
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4081 1204
C1306460 Primary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981
C0023467 Leukemia, Myelocytic, Acute disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 3111 6892
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 3087 515
C0919267 ovarian neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2542 757
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 2438 563
C0279626 Squamous cell carcinoma of esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2053 329
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1800 1022
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 1630 348
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10
C0497327 Dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 816 176
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 773 243
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 656 1178
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
C0085605 Liver Failure disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 293 20
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 198 33
C0017921 Glycogen storage disease type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 194 269
C0023520 Leukodystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 190 27
C0020541 Portal Hypertension disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the cardiovascular system 167 9
C0037772 Spastic Paraplegia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the musculature 144 93
C1263857 Peripheral axonal neuropathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 94 12
C0020305 Hydrops Fetalis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth 92 14
C0393819 Polyradiculoneuropathy, Chronic Inflammatory Demyelinating disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 82 4